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JAMA Pediatrics, ISSN 2168-6203, 08/2015, Volume 169, Issue 8, pp. 778 - 782
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MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 12/2018, Volume 125, Issue 4, pp. 345 - 350
Niemann-Pick disease, type Cl (NPC1) is an inborn error of metabolism that results in endolysosomal accumulation of unesterified cholesterol. Clinically, NPC1... 
Niemann-Pick disease | MEDICINE, RESEARCH & EXPERIMENTAL | MIGLUSTAT | RIPK3 | CHOLESTEROL | Type C1 | RIP kinase | DEATH | MECHANISMS | PHASE | NPC1 | Necroptosis | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | 2-hydroxypropyl-beta-cyclodextrin | RIPK1 | CELL | PROGRESSION | ONSET
Journal Article
Journal Article
by Patterson, Marc C and Mengel, Eugen and Vanier, Marie T and Schwierin, Barbara and Muller, Audrey and Cornelisse, Peter and Pineda, Mercè and Amado-Fondo, A and Amraoui, Y and Andria, G and Arellano, M and Audoin, B and Azcona, C and Barr, C and Baruteau, J and Baumgartner, C and Bell, L and Bembi, B and Benneddif, K and Bernard, G and Bobocea, N and Bodzioch, M and Boettcher, T and Bonnan, M and Broue, P and Bruni, A and Caceres, M and Camino, R and Campbell, E and Cances, C and Cannell, P and Cesar, J and Chabrol, B and Chakrapani, A and Colao, R and Collet, A and Corsetti, T and Cousins, A and Covanis, A and Cox, T and Cuisset, J.M and Dardis, A and Das, A and Deegan, P and Dengler, T and Deodato, F and Derralynn, H and Di Donato, I and Di Rocco, M and Dinopoulos, A and Pakiela, Domanska and Eckehard, S and Engelen, M and Eyer, D and Fecarotta, S and Federico, A and Filla, A and Fiumara, A and Fonseca, M.J and Gabrielli, O and Garcia, T and Garrote, J and Gissen, P and Giugliani, L and Greenberg, C and Heron, B and Hertzberg, C and Higgins, F and Hill, A and Hiwot, T and Hlavata, A and Hörbe-Blindt, A and Howley, E and Hussain, N and Illsinger, S and Imrie, J and Jacklin, E and Jones, S and Jovanovic, A and Kaczmarek, V and Kaphan, E and Kibaek, M and Kleinhans, P and Klünemann, K.H and Koch, S.M and Koegl-Wallner, W and Kolnikova, M and Korenke, G.C and Korinthenberg, R and Kumari, S and Lachmann, R and Lee Ann, L and Likopoulou, L and Lilienthal, E and Link, B and Lippold, M and Lopez-Laso, E and Luecke, T and Lundgren, J and Mackrell, M and ... and NPC Registry Investigators and NPC Registry investigators and On behalf of the NPC Registry investigators and Child and Adolescent Psychiatry and Klinisk neurogenetik and Lund University and Barn- och ungdomspsykiatri and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Clinical Neurogenetics and Lunds universitet
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2015, Volume 10, Issue 1, p. 65
Journal Article
Journal Article
Journal Article
Journal Article